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Bleuel, R.; Zink, A.; Biedermann, T. and Hauck, F. (2019): Granulomatöse Dermatitis bei einem 5 Monate alten Mädchen mit Omenn-Syndrom (atypisches SCID). In: Aktuelle Dermatologie, Vol. 45, No. 8/9: pp. 406-409

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Abstract

In dermatology, we may be confronted with severe combined immune deficiency syndromes. Early diagnosis and referral to specialized centers is crucial for the prognosis. We describe a girl aged 5 months at diagnosis with an Omenn syndrome due to an atypical severe combined immunodeficiency (SCID). Clinical manifestations were a dermatitis, a chronic, antibiotic-resistant respiratory tract infection and inflammatory bowel disease. Routine laboratory tests revealed mild lymphocytopenie with eosinophilia and elevated IgE. After inclusion in the national patient centered project Translate-NAMSE specialized immunological investigations diagnosed an atypical T (low) B (low) NK (+) SCID caused by hypomorphic homozygous IL7RA mutation and a curative haploidentic allogeneic hematopoetic stem cell transplantation was started.

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